Literature DB >> 8981972

Diagnostic testing: a cost analysis for Prader-Willi and Angelman syndromes.

K G Monaghan, D L Van Dyke, G Feldman, A Wiktor, L Weiss.   

Abstract

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Year:  1997        PMID： 8981972      PMCID： PMC1712543     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  6 in total

1.  Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.

Authors:  W P Robinson; A Bottani; Y G Xie; J Balakrishman; F Binkert; M Mächler; A Prader; A Schinzel
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

2.  Comparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman's syndromes.

Authors:  A Smith; M Prasad; Z M Deng; L Robson; T Woodage; R J Trent
Journal:  Arch Dis Child       Date:  1995-05       Impact factor: 3.791

3.  Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10).

Authors:  M Erdel; S Schuffenhauer; B Buchholz; U Barth-Witte; S Köchl; B Utermann; H C Duba; G Utermann
Journal:  Hum Genet       Date:  1996-06       Impact factor: 4.132

4.  DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome.

Authors:  G Gillessen-Kaesbach; S Gross; S Kaya-Westerloh; E Passarge; B Horsthemke
Journal:  J Med Genet       Date:  1995-02       Impact factor: 6.318

5.  Prader-Willi syndrome: consensus diagnostic criteria.

Authors:  V A Holm; S B Cassidy; M G Butler; J M Hanchett; L R Greenswag; B Y Whitman; F Greenberg
Journal:  Pediatrics       Date:  1993-02       Impact factor: 7.124

6.  Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation.

Authors:  C A Williams; H Angelman; J Clayton-Smith; D J Driscoll; J E Hendrickson; J H Knoll; R E Magenis; A Schinzel; J Wagstaff; E M Whidden
Journal:  Am J Med Genet       Date:  1995-03-27
  6 in total
  4 in total

1.  Diagnostic testing for Prader-Willi and Angelman syndromes: response.

Authors:  A Smith; T Buchholz; L Robson
Journal:  Am J Hum Genet       Date:  1997-07       Impact factor: 11.025

Review 2.  The dilemma of diagnostic testing for Prader-Willi syndrome.

Authors:  Arabella Smith; Dorothy Hung
Journal:  Transl Pediatr       Date:  2017-01

Review 3.  Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China.

Authors:  Dai Yang-Li; Luo Fei-Hong; Zhang Hui-Wen; Ma Ming-Sheng; Luo Xiao-Ping; Liu Li; Wang Yi; Zhou Qing; Jiang Yong-Hui; Zou Chao-Chun
Journal:  Orphanet J Rare Dis       Date:  2022-06-13       Impact factor: 4.303

4.  Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader-Willi/Angelman syndromes?

Authors:  Veronica Ortega; Raymond J Louie; Melanie A Jones; Alka Chaubey; Barbara R DuPont; Allison Britt; Joseph Ray; Scott D McLean; Rebecca O Littlejohn; Gopalrao Velagaleti
Journal:  Mol Cytogenet       Date:  2021-07-14       Impact factor: 2.009
  4 in total

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